ClinVar Miner

Submissions for variant 46;XY;t(6;11)(p12.3;p14.2)dn

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Talkowski Laboratory, Center for Human Genetic Research, Massachusetts General Hospital RCV000258664 SCV000320954 pathogenic Cryptorchidism; Sensorineural hearing loss disorder; High palate; Pes planus; Delayed speech and language development; Macrocephaly; Strabismus; Metatarsus adductus; Sacral hypertrichosis; Moderate global developmental delay; Lumbar hypertrichosis; Camptodactyly of finger; Hypotonia 2016-08-20 criteria provided, single submitter research

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